Canonical Allele Identifier: CA1581268518

Gene: FBN2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333249_128333250delinsTG , CM000667.2:g.128333249_128333250delinsTG	GRCh38
NC_000005.9:g.127668941_127668942delinsTG , CM000667.1:g.127668941_127668942delinsTG	GRCh37
NC_000005.8:g.127696840_127696841delinsTG	NCBI36
NG_008750.1:g.209794_209795delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-216_884-215delinsCA
ENST00000703785.1:n.965-216_965-215delinsCA
ENST00000262464.9:c.4100-216_4100-215delinsCA MANE Select	ENSP00000262464.4:n.4100-216_4100-215delinsCA
ENST00000262464.8:c.4100-216_4100-215delinsCA	ENSP00000262464.4:n.4100-216_4100-215delinsCA
ENST00000507835.5:c.650-216_650-215delinsCA	ENSP00000426839.1:n.650-216_650-215delinsCA
ENST00000508053.5:c.4100-216_4100-215delinsCA	ENSP00000424571.1:n.4100-216_4100-215delinsCA
ENST00000508989.5:c.4001-216_4001-215delinsCA	ENSP00000425596.1:n.4001-216_4001-215delinsCA
ENST00000619499.4:c.4097-216_4097-215delinsCA	ENSP00000482132.1:n.4097-216_4097-215delinsCA
NM_001999.3:c.4100-216_4100-215delinsCA	NP_001990.2:n.4100-216_4100-215delinsCA
XM_017009228.2:c.3947-216_3947-215delinsCA	XP_016864717.1:n.3947-216_3947-215delinsCA
NM_001999.4:c.4100-216_4100-215delinsCA MANE Select	NP_001990.2:n.4100-216_4100-215delinsCA